Mutation analysis of a Chinese family with inherited long QT syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 68-70, 2005.
Artículo
en Chino
| WPRIM
| ID: wpr-321157
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).</p><p><b>METHODS</b>The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.</p><p><b>RESULTS</b>A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.</p><p><b>CONCLUSION</b>The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Síndrome de QT Prolongado
/
Análisis Mutacional de ADN
/
China
/
Reacción en Cadena de la Polimerasa
/
Salud de la Familia
/
Predisposición Genética a la Enfermedad
/
Mutación Missense
/
Diagnóstico
/
Canal de Potasio KCNQ1
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2005
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS